Coarse facial features including Coffin-Siris-like disorders
Gene: ARID1AEnsemblGeneIds (GRCh38): ENSG00000117713
EnsemblGeneIds (GRCh37): ENSG00000117713
OMIM: 603024, Gene2Phenotype
ARID1A is in 5 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Causes around 5% of Coffin SirisCreated: 23 Nov 2016, 9:30 a.m.
alisdair mcneill (Sheffield childrens hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability; coffin-siris syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Coffin-Siris syndrome 2
- OMIM
- 603024
- Clinvar variants
- Variants in ARID1A
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)ARID1A was added to Coarse facial features including Coffin-Siris-like disorderspanel. Source: Radboud University Medical Center, Nijmegen
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
alisdair mcneill (Sheffield childrens hospital)ARID1A was created by [email protected]
Added New Source
alisdair mcneill (Sheffield childrens hospital)ARID1A was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list